Incidental Mutation 'R6343:Ttll5'
ID 514017
Institutional Source Beutler Lab
Gene Symbol Ttll5
Ensembl Gene ENSMUSG00000012609
Gene Name tubulin tyrosine ligase-like family, member 5
Synonyms 1700048H13Rik, D630041K24Rik, STAMP, 2310009M18Rik, 4930556H18Rik
MMRRC Submission 044497-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.716) question?
Stock # R6343 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 85871417-86100534 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 86003473 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 1103 (H1103R)
Ref Sequence ENSEMBL: ENSMUSP00000105853 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040179] [ENSMUST00000040273] [ENSMUST00000110224] [ENSMUST00000155448] [ENSMUST00000176695] [ENSMUST00000177114]
AlphaFold Q8CHB8
Predicted Effect probably benign
Transcript: ENSMUST00000040179
AA Change: H1117R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000048809
Gene: ENSMUSG00000012609
AA Change: H1117R

DomainStartEndE-ValueType
Pfam:TTL 110 407 1.9e-94 PFAM
low complexity region 556 575 N/A INTRINSIC
low complexity region 595 621 N/A INTRINSIC
low complexity region 747 761 N/A INTRINSIC
low complexity region 781 793 N/A INTRINSIC
low complexity region 835 847 N/A INTRINSIC
low complexity region 1167 1181 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000040273
AA Change: H1117R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000039939
Gene: ENSMUSG00000012609
AA Change: H1117R

DomainStartEndE-ValueType
Pfam:TTL 110 407 1e-94 PFAM
low complexity region 556 575 N/A INTRINSIC
low complexity region 595 621 N/A INTRINSIC
low complexity region 747 761 N/A INTRINSIC
low complexity region 781 793 N/A INTRINSIC
low complexity region 835 847 N/A INTRINSIC
low complexity region 1167 1181 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110224
AA Change: H1103R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000105853
Gene: ENSMUSG00000012609
AA Change: H1103R

DomainStartEndE-ValueType
Pfam:TTL 110 407 1e-94 PFAM
low complexity region 543 562 N/A INTRINSIC
low complexity region 582 608 N/A INTRINSIC
low complexity region 734 748 N/A INTRINSIC
low complexity region 768 780 N/A INTRINSIC
low complexity region 822 834 N/A INTRINSIC
low complexity region 1153 1167 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000155448
SMART Domains Protein: ENSMUSP00000134971
Gene: ENSMUSG00000012609

DomainStartEndE-ValueType
Pfam:TTL 110 407 6.4e-95 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000175844
AA Change: H85R
SMART Domains Protein: ENSMUSP00000134934
Gene: ENSMUSG00000012609
AA Change: H85R

DomainStartEndE-ValueType
low complexity region 136 150 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000176695
SMART Domains Protein: ENSMUSP00000135852
Gene: ENSMUSG00000012609

DomainStartEndE-ValueType
Pfam:TTL 110 407 2.1e-95 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000176937
AA Change: H284R
Predicted Effect unknown
Transcript: ENSMUST00000177168
AA Change: H552R
SMART Domains Protein: ENSMUSP00000134874
Gene: ENSMUSG00000012609
AA Change: H552R

DomainStartEndE-ValueType
low complexity region 3 14 N/A INTRINSIC
low complexity region 31 57 N/A INTRINSIC
low complexity region 183 197 N/A INTRINSIC
low complexity region 217 229 N/A INTRINSIC
low complexity region 271 283 N/A INTRINSIC
low complexity region 603 617 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000177525
AA Change: H246R
Predicted Effect probably benign
Transcript: ENSMUST00000177114
SMART Domains Protein: ENSMUSP00000135395
Gene: ENSMUSG00000012609

DomainStartEndE-ValueType
Pfam:TTL 110 407 2.1e-95 PFAM
Meta Mutation Damage Score 0.0603 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.9%
Validation Efficiency 100% (51/51)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the tubulin tyrosine ligase like protein family. This protein interacts with two glucocorticoid receptor coactivators, transcriptional intermediary factor 2 and steroid receptor coactivator 1. This protein may function as a coregulator of glucocorticoid receptor mediated gene induction and repression. This protein may also function as an alpha tubulin polyglutamylase.[provided by RefSeq, Feb 2010]
PHENOTYPE: Mice homozygous for a hypomorphic allele exhibit male infertility associated with abnormal sperm morphology and reduced tubulin polyglutamylation in the spermatozoa. [provided by MGI curators]
Allele List at MGI

All alleles(7) : Targeted, other(3) Gene trapped(4)

Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 A T 11: 110,205,378 (GRCm39) L301Q probably damaging Het
Adgrl4 T C 3: 151,223,443 (GRCm39) L632P probably damaging Het
Cacna2d1 T A 5: 16,527,562 (GRCm39) I539N probably benign Het
Camta1 T A 4: 151,164,306 (GRCm39) H314L probably damaging Het
Car2 T C 3: 14,953,025 (GRCm39) S56P probably damaging Het
Chrm5 G A 2: 112,309,793 (GRCm39) A441V probably damaging Het
Ckap5 T A 2: 91,426,819 (GRCm39) N1380K possibly damaging Het
Cspg4 T C 9: 56,799,976 (GRCm39) V1580A probably benign Het
Dcc A G 18: 71,469,106 (GRCm39) L1099P probably damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Homo
Epha5 A T 5: 84,254,606 (GRCm39) H644Q probably damaging Het
Eya3 T C 4: 132,400,221 (GRCm39) I80T probably damaging Het
Fdft1 A T 14: 63,388,721 (GRCm39) Y304N probably damaging Het
Fiz1 C T 7: 5,011,400 (GRCm39) A373T possibly damaging Het
Gpatch2l T A 12: 86,307,379 (GRCm39) Y252* probably null Het
Hivep1 G T 13: 42,313,147 (GRCm39) G1796* probably null Het
Irf8 T C 8: 121,480,446 (GRCm39) V228A probably damaging Het
Islr A C 9: 58,064,379 (GRCm39) V376G probably damaging Het
Kdm5a T C 6: 120,359,894 (GRCm39) V230A probably benign Het
Lpgat1 A G 1: 191,508,684 (GRCm39) probably null Het
Lrp8 T C 4: 107,726,353 (GRCm39) probably null Het
Lyzl4 A C 9: 121,407,150 (GRCm39) S127A possibly damaging Het
Map4k1 T C 7: 28,699,715 (GRCm39) V606A possibly damaging Het
Mau2 T A 8: 70,484,173 (GRCm39) K138N probably damaging Het
Meikin T C 11: 54,261,592 (GRCm39) L33P probably damaging Het
Mrpl28 T C 17: 26,345,252 (GRCm39) V224A probably benign Het
Ncdn T C 4: 126,640,964 (GRCm39) D512G possibly damaging Het
Nlrp2 T A 7: 5,303,925 (GRCm39) Q200L possibly damaging Het
Nup98 T C 7: 101,843,957 (GRCm39) N89S possibly damaging Het
Ogfrl1 T G 1: 23,408,944 (GRCm39) K427N probably benign Het
Or14a258 T A 7: 86,035,059 (GRCm39) R270* probably null Het
Or52p2 A G 7: 102,237,753 (GRCm39) C66R probably damaging Het
Or5b12 G T 19: 12,896,946 (GRCm39) H242Q probably damaging Het
Or6c201 A T 10: 128,969,535 (GRCm39) L34* probably null Het
Padi3 C T 4: 140,530,819 (GRCm39) V68I possibly damaging Het
Pign A T 1: 105,512,820 (GRCm39) M621K probably benign Het
Pigv C T 4: 133,392,547 (GRCm39) V208M probably damaging Het
Ripk4 A G 16: 97,564,726 (GRCm39) probably benign Het
Rsf1 A G 7: 97,310,124 (GRCm39) K285E probably benign Het
Serpina3k G C 12: 104,311,562 (GRCm39) G380A probably benign Het
Sorbs1 A G 19: 40,365,426 (GRCm39) probably null Het
Srrd G C 5: 112,487,866 (GRCm39) A104G probably benign Het
Tbp T A 17: 15,721,351 (GRCm39) probably null Het
Tecrl G A 5: 83,442,447 (GRCm39) H209Y probably damaging Het
Tmprss11c A G 5: 86,404,204 (GRCm39) L157P probably damaging Het
Tmprss13 A T 9: 45,254,498 (GRCm39) T422S possibly damaging Het
Urb2 G T 8: 124,757,864 (GRCm39) E1190D probably damaging Het
Vldlr A G 19: 27,223,049 (GRCm39) Y699C probably damaging Het
Vmn1r22 T G 6: 57,877,563 (GRCm39) N138T possibly damaging Het
Other mutations in Ttll5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00844:Ttll5 APN 12 85,890,600 (GRCm39) missense probably damaging 1.00
IGL00932:Ttll5 APN 12 85,976,681 (GRCm39) missense probably damaging 1.00
IGL00964:Ttll5 APN 12 85,896,057 (GRCm39) missense possibly damaging 0.78
IGL00978:Ttll5 APN 12 85,980,256 (GRCm39) nonsense probably null
IGL00990:Ttll5 APN 12 85,923,363 (GRCm39) missense probably damaging 1.00
IGL01726:Ttll5 APN 12 85,965,708 (GRCm39) missense probably benign 0.30
IGL01797:Ttll5 APN 12 86,003,371 (GRCm39) missense possibly damaging 0.54
IGL02008:Ttll5 APN 12 85,980,385 (GRCm39) missense probably damaging 1.00
IGL02210:Ttll5 APN 12 85,959,319 (GRCm39) intron probably benign
IGL02979:Ttll5 APN 12 85,873,356 (GRCm39) missense probably damaging 1.00
IGL03079:Ttll5 APN 12 85,923,332 (GRCm39) missense probably damaging 1.00
IGL03149:Ttll5 APN 12 85,965,758 (GRCm39) missense probably damaging 0.98
G4846:Ttll5 UTSW 12 86,071,018 (GRCm39) missense probably damaging 0.99
PIT4812001:Ttll5 UTSW 12 85,973,635 (GRCm39) missense probably benign 0.12
R0045:Ttll5 UTSW 12 85,926,133 (GRCm39) splice site probably benign
R0153:Ttll5 UTSW 12 85,878,740 (GRCm39) missense probably damaging 1.00
R0282:Ttll5 UTSW 12 86,042,827 (GRCm39) missense probably benign 0.12
R0318:Ttll5 UTSW 12 85,923,368 (GRCm39) critical splice donor site probably null
R0465:Ttll5 UTSW 12 85,980,100 (GRCm39) missense probably benign 0.42
R0540:Ttll5 UTSW 12 85,980,450 (GRCm39) critical splice donor site probably null
R1086:Ttll5 UTSW 12 85,937,853 (GRCm39) missense possibly damaging 0.66
R1467:Ttll5 UTSW 12 85,965,736 (GRCm39) splice site probably null
R1470:Ttll5 UTSW 12 85,926,168 (GRCm39) missense possibly damaging 0.59
R1470:Ttll5 UTSW 12 85,926,168 (GRCm39) missense possibly damaging 0.59
R1505:Ttll5 UTSW 12 85,926,184 (GRCm39) missense probably damaging 1.00
R1524:Ttll5 UTSW 12 85,911,342 (GRCm39) nonsense probably null
R1540:Ttll5 UTSW 12 85,938,982 (GRCm39) nonsense probably null
R1598:Ttll5 UTSW 12 85,910,372 (GRCm39) missense probably damaging 0.98
R1649:Ttll5 UTSW 12 85,969,788 (GRCm39) missense probably damaging 1.00
R1774:Ttll5 UTSW 12 85,980,176 (GRCm39) missense probably benign 0.09
R2340:Ttll5 UTSW 12 85,938,922 (GRCm39) missense probably benign 0.02
R4049:Ttll5 UTSW 12 86,059,573 (GRCm39) missense probably benign 0.01
R4094:Ttll5 UTSW 12 86,003,376 (GRCm39) nonsense probably null
R4095:Ttll5 UTSW 12 86,003,376 (GRCm39) nonsense probably null
R4908:Ttll5 UTSW 12 85,965,948 (GRCm39) missense probably benign 0.31
R5012:Ttll5 UTSW 12 85,973,618 (GRCm39) missense possibly damaging 0.93
R5137:Ttll5 UTSW 12 85,969,819 (GRCm39) missense possibly damaging 0.83
R5416:Ttll5 UTSW 12 86,059,602 (GRCm39) missense possibly damaging 0.77
R5773:Ttll5 UTSW 12 85,980,329 (GRCm39) frame shift probably null
R5774:Ttll5 UTSW 12 85,980,329 (GRCm39) frame shift probably null
R6039:Ttll5 UTSW 12 85,878,729 (GRCm39) missense probably damaging 1.00
R6039:Ttll5 UTSW 12 85,878,729 (GRCm39) missense probably damaging 1.00
R6173:Ttll5 UTSW 12 85,980,151 (GRCm39) missense probably damaging 0.99
R6449:Ttll5 UTSW 12 86,071,050 (GRCm39) missense probably benign 0.00
R6750:Ttll5 UTSW 12 86,003,384 (GRCm39) missense probably damaging 0.98
R6802:Ttll5 UTSW 12 85,926,160 (GRCm39) missense probably damaging 1.00
R6825:Ttll5 UTSW 12 85,930,102 (GRCm39) splice site probably null
R6955:Ttll5 UTSW 12 85,911,353 (GRCm39) missense possibly damaging 0.91
R7098:Ttll5 UTSW 12 85,964,447 (GRCm39) critical splice acceptor site probably null
R7154:Ttll5 UTSW 12 85,972,538 (GRCm39) missense probably damaging 0.98
R7215:Ttll5 UTSW 12 85,980,170 (GRCm39) missense probably benign 0.02
R7339:Ttll5 UTSW 12 85,904,238 (GRCm39) critical splice donor site probably null
R7520:Ttll5 UTSW 12 85,946,245 (GRCm39) missense probably damaging 1.00
R7728:Ttll5 UTSW 12 86,003,406 (GRCm39) missense probably benign 0.02
R7894:Ttll5 UTSW 12 85,935,948 (GRCm39) missense probably damaging 1.00
R8119:Ttll5 UTSW 12 86,067,322 (GRCm39) missense probably damaging 0.98
R8129:Ttll5 UTSW 12 85,937,858 (GRCm39) critical splice donor site probably null
R8200:Ttll5 UTSW 12 85,926,184 (GRCm39) missense probably damaging 1.00
R8357:Ttll5 UTSW 12 85,923,352 (GRCm39) missense probably damaging 1.00
R8413:Ttll5 UTSW 12 85,965,895 (GRCm39) missense probably benign 0.00
R8457:Ttll5 UTSW 12 85,923,352 (GRCm39) missense probably damaging 1.00
R9086:Ttll5 UTSW 12 86,071,107 (GRCm39) missense probably benign
R9086:Ttll5 UTSW 12 85,964,516 (GRCm39) missense possibly damaging 0.94
R9265:Ttll5 UTSW 12 85,937,795 (GRCm39) nonsense probably null
R9293:Ttll5 UTSW 12 85,937,806 (GRCm39) missense probably damaging 1.00
R9302:Ttll5 UTSW 12 85,873,338 (GRCm39) missense possibly damaging 0.63
R9621:Ttll5 UTSW 12 85,938,896 (GRCm39) missense possibly damaging 0.46
Predicted Primers PCR Primer
(F):5'- AGCATCGCAGACTGTGATTG -3'
(R):5'- GCTCAGTGCTAGAATCTGTGGAC -3'

Sequencing Primer
(F):5'- AGACTGTGATTGCTCCCACATG -3'
(R):5'- TGCTAGAATCTGTGGACAGGCAG -3'
Posted On 2018-04-27